Mutation details:

cDNA level identifier (NM_000161):

c.453+1G>C

Gene level identifier:

g.37527G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

14:55332044 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).